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NM_022041.4(GAN):c.384C>A (p.Cys128Ter) AND Giant axonal neuropathy 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 18, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003613457.2

Allele description [Variation Report for NM_022041.4(GAN):c.384C>A (p.Cys128Ter)]

NM_022041.4(GAN):c.384C>A (p.Cys128Ter)

Gene:
GAN:gigaxonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.2
Genomic location:
Preferred name:
NM_022041.4(GAN):c.384C>A (p.Cys128Ter)
HGVS:
  • NC_000016.10:g.81354506C>A
  • NG_009007.1:g.44541C>A
  • NM_001377486.1:c.-256C>A
  • NM_022041.4:c.384C>AMANE SELECT
  • NP_071324.1:p.Cys128Ter
  • NP_071324.1:p.Cys128Ter
  • LRG_242t1:c.384C>A
  • LRG_242:g.44541C>A
  • LRG_242p1:p.Cys128Ter
  • NC_000016.9:g.81388111C>A
  • NM_022041.3:c.384C>A
Protein change:
C128*
Molecular consequence:
  • NM_001377486.1:c.-256C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_022041.4:c.384C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Giant axonal neuropathy 1 (GAN1)
Synonyms:
GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE
Identifiers:
MONDO: MONDO:0009749; MedGen: C1850386; Orphanet: 643; OMIM: 256850

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004458003Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 18, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Identification of seven novel mutations in the GAN gene.

Bomont P, Ioos C, Yalcinkaya C, Korinthenberg R, Vallat JM, Assami S, Munnich A, Chabrol B, Kurlemann G, Tazir M, Koenig M.

Hum Mutat. 2003 Apr;21(4):446.

PubMed [citation]
PMID:
12655563

Clinical and molecular findings in patients with giant axonal neuropathy (GAN).

Bruno C, Bertini E, Federico A, Tonoli E, Lispi ML, Cassandrini D, Pedemonte M, Santorelli FM, Filocamo M, Dotti MT, Schenone A, Malandrini A, Minetti C.

Neurology. 2004 Jan 13;62(1):13-6.

PubMed [citation]
PMID:
14718689
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004458003.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GAN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys128*) in the GAN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GAN are known to be pathogenic (PMID: 12655563, 14718689, 23890932).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024